Linked Data
dbSNP Id:
rs39861
gnomAD v2:
5-66152258-A-G
gnomAD v3:
5-66856430-A-G
gnomAD v4:
5-66856430-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.66856430A>G , CM000667.2:g.66856430A>G | GRCh38 |
| NC_000005.9:g.66152258A>G , CM000667.1:g.66152258A>G | GRCh37 |
| NC_000005.8:g.66188014A>G | NCBI36 |
| NG_034036.1:g.265083A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403625.7:c.643-43521A>G MANE Select | ENSP00000385727.1:n.643-43521A>G | |
| ENST00000403625.6:c.643-43521A>G | ENSP00000385727.1:n.643-43521A>G | |
| ENST00000403666.5:c.39+27548A>G | ENSP00000384313.1:n.39+27548A>G | |
| ENST00000406039.5:c.643-43521A>G | ENSP00000384547.1:n.643-43521A>G | |
| ENST00000406374.5:c.643-43521A>G | ENSP00000385088.1:n.643-43521A>G | |
| ENST00000411628.5:c.15-14348A>G | ||
| ENST00000432817.5:c.259-43521A>G | ENSP00000413573.1:n.259-43521A>G | |
| ENST00000434115.5:c.64-43521A>G | ENSP00000396765.1:n.64-43521A>G | |
| ENST00000450827.5:c.21+27548A>G | ENSP00000404801.1:n.21+27548A>G | |
| ENST00000452953.5:c.261-43521A>G | ||
| ENST00000470421.1:n.107+27548A>G | ||
| ENST00000490016.6:c.39+27548A>G | ENSP00000421739.1:n.39+27548A>G | |
| NM_001164664.1:c.643-43521A>G | NP_001158136.1:n.643-43521A>G | |
| NM_001290228.1:c.643-43521A>G | NP_001277157.1:n.643-43521A>G | |
| NM_015183.2:c.39+27548A>G | NP_055998.1:n.39+27548A>G | |
| NM_198828.2:c.643-43521A>G | NP_942123.1:n.643-43521A>G | |
| XM_011543381.1:c.829-14348A>G | XP_011541683.1:n.829-14348A>G | |
| XM_011543382.1:c.643-14348A>G | XP_011541684.1:n.643-14348A>G | |
| XM_011543383.1:c.643-43521A>G | XP_011541685.1:n.643-43521A>G | |
| XM_017009450.1:c.39+27548A>G | XP_016864939.1:n.39+27548A>G | |
| XM_017009451.1:c.39+27548A>G | XP_016864940.1:n.39+27548A>G | |
| XM_017009452.1:c.-403+27690A>G | XP_016864941.1:n.-403+27690A>G | |
| XM_024446044.1:c.667-14348A>G | XP_024301812.1:n.667-14348A>G | |
| NM_001164664.2:c.643-43521A>G MANE Select | NP_001158136.1:n.643-43521A>G | |
| NM_001290228.2:c.643-43521A>G | NP_001277157.1:n.643-43521A>G | |
| NM_015183.3:c.39+27548A>G | NP_055998.1:n.39+27548A>G | |
| NM_198828.3:c.643-43521A>G | NP_942123.1:n.643-43521A>G | |
| NM_001393524.1:c.643-43521A>G | NP_001380453.1:n.643-43521A>G | |
| NM_001393525.1:c.643-43521A>G | NP_001380454.1:n.643-43521A>G | |
| NM_001393526.1:c.39+27548A>G | NP_001380455.1:n.39+27548A>G | |
| NM_001393528.1:c.39+27548A>G | NP_001380457.1:n.39+27548A>G |